Male
No
Yes
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_018972.4:c.485-2A>G | 2 | NA |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
214400.2.2 | Algeria | Difficulty walking; Progressive distal muscular atrophy; Lumbar kyphoscoliosis; Areflexia; Functional motor deficit; Peripheral demyelination; Axonal loss | Female | No | Yes | 'ALG384-II.2' in the publication, Sister of 214400.2.1 |